M Moore1, D Salles, L M Jampol. 1. Department of Ophthalmology, Northwestern University Medical School, Chicago, Illinois, USA.
Abstract
PURPOSE: To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas. METHODS: The ophthalmology records, stereoscopic fundus photographs, and visual fields of a 27-year-old woman with familial (autosomal dominant) optic nerve colobomas were reviewed. The appearance of the optic nerves was documented over a 13-year period (1985 to 1998). RESULTS: Despite repeatedly normal intraocular pressures, the patient showed progressive optic nerve cupping and neural rim decrease in both eyes. Visual field testing was available over a 5-year period (1993 to 1998) and was abnormal, but no progression was seen. CONCLUSIONS: This case of progressive cupping and neural rim decrease in a patient with autosomal dominant optic nerve coloboma in both eyes may provide insight into the optic nerve cupping associated with normal tension glaucoma. Careful follow-up of patients with optic disk colobomas or patients is indicated to detect possible optic nerve changes or field loss.
PURPOSE: To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas. METHODS: The ophthalmology records, stereoscopic fundus photographs, and visual fields of a 27-year-old woman with familial (autosomal dominant) optic nerve colobomas were reviewed. The appearance of the optic nerves was documented over a 13-year period (1985 to 1998). RESULTS: Despite repeatedly normal intraocular pressures, the patient showed progressive optic nerve cupping and neural rim decrease in both eyes. Visual field testing was available over a 5-year period (1993 to 1998) and was abnormal, but no progression was seen. CONCLUSIONS: This case of progressive cupping and neural rim decrease in a patient with autosomal dominant optic nerve coloboma in both eyes may provide insight into the optic nerve cupping associated with normal tension glaucoma. Careful follow-up of patients with optic disk colobomas or patients is indicated to detect possible optic nerve changes or field loss.
Authors: Ralph J Hazlewood; Benjamin R Roos; Frances Solivan-Timpe; Robert A Honkanen; Lee M Jampol; Stephen C Gieser; Kacie J Meyer; Robert F Mullins; Markus H Kuehn; Todd E Scheetz; Young H Kwon; Wallace L M Alward; Edwin M Stone; John H Fingert Journal: Hum Mutat Date: 2015-03 Impact factor: 4.878
Authors: John H Fingert; Robert A Honkanen; Suma P Shankar; Louisa M Affatigato; Mary A Ehlinger; Michael D Moore; Lee M Jampol; Val C Sheffield; Edwin M Stone; Wallace L M Alward Journal: Am J Ophthalmol Date: 2007-03-19 Impact factor: 5.258
Authors: Kathleen R Chirco; Ralph J Hazlewood; Kathy Miller; Grefachew Workalemahu; Lee M Jampol; G Robert Lesser; Robert F Mullins; Markus H Kuehn; John H Fingert Journal: Mol Vis Date: 2016-12-14 Impact factor: 2.367
Authors: Eileen S Hwang; Denise J Morgan; Katie L Pennington; Leah A Owen; John H Fingert; Paul S Bernstein; Margaret M DeAngelis Journal: BMC Med Genet Date: 2019-04-27 Impact factor: 2.103